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541.
Peters JA Hoskins L Prindiville S Kenen R Greene MH 《Journal of genetic counseling》2006,15(6):477-489
The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289–309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258–264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions. 相似文献
542.
We conducted an exploratory, qualitative study investigating experiences of women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers. These germline mutation carriers face an increased lifetime risk of a second primary breast cancer and an increased risk for a primary ovarian cancer. Thirteen women who fit this criteria participated in three focus groups conducted at a major cancer center in the UK during Spring 2003. We asked broad, open-ended questions that allowed for a wide range of responses about their cancer and genetic testing experiences, physical and psycho-social concerns, family and partner reactions and their need for social support. The women expressed feelings of devastation, loneliness, feeling different and isolation, ambivalence about having to support family members, worries about partner’s anxiety and depression, and anxiety about talking to family members, especially children. These feelings were stronger after the cancer diagnosis and compounded by the genetic test results that occurred at a later time. We also found that, at least temporarily, the women experienced what we call “social separation”—emotional distance from, or dissonance with groups they interact with or are part of, e.g., family and friends, frequently leading to a reduction in communication or a change in previously unstated, but accepted normal interaction. We concentrate on a few characteristics of social separation—feelings of aloneness, isolation and separation, use of silence and verbal discretion, the relationship between estrangement and kinship interaction and norm disruption, and are looking at social patterns of interpersonal relationships that may occur when risk and illness statuses are new and framing and feeling rules have not as yet been clearly developed due to a cultural lag. 相似文献
543.
The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband. 相似文献
544.
The genetic testing of children raises many ethical concerns. This paper examines how five position statements from Canada,
UK and USA, which present guidelines for good practice in this area produce different recommendations for carrier testing
and predictive testing. We find that the genetic information generated through carrier testing is routinely presented as less
serious than that generated from predictive testing. Additionally, the reproductive implications of predictive testing are
also routinely erased. Consequently, the papers argue strongly against predictive testing but advise caution against carrier
testing in somewhat weaker terms. We argue that these differences rest on assumptions about the status of reproduction in
people’s lives and on an ethical stance that foregrounds the self over others. We propose that questioning the crude and sharp
distinction between carrier and predictive testing in principle may enable practitioners and parents/families to make more
nuanced decisions in practice.
Parts of this work have been presented in the 1st International CESAGen Conference, London, 2004, and Genetics and Society
Meetings, Wales. 相似文献
545.
546.
547.
Fields L Fitzer A Shamoun K Matneja P Watanabe M Tittelbach D 《Journal of the experimental analysis of behavior》2005,84(2):243-267
After training conditional discriminations among selected stimuli from two perceptual classes, the emergence of novel relations involving other members of both classes was assessed using cross-class probes. The cross-class probes were presented using one of four different testing schedules. In the 2/9 test, nine different probes were presented in each of two test blocks. In the 6/3 test, three different probes were presented in each of six test blocks. In the 18/1-RND test, each of the 18 cross-class probes was presented in separate test blocks. In the 2/9 and 6/3 tests, the cross-class probes were presented in a randomized order within test block. In the 18/1-RND test, the cross-class probes were presented in a randomized sequence. In the 18/1-PRGM test, however, the cross-class probes were presented in a programmed order (i.e., the values of the stimuli in each cross-class probe were changed systematically in the succession of probe presentations). About 55% of the linked perceptual classes emerged during the 2/9, 6/3, and 18/1-RND tests. Thus the number of different probes in a test block did not influence the emergence of classes as long as the probes were presented in a random order. Virtually all classes emerged during the 18/1-PRGM test. Thus at least one ordered introduction of different cross probes resulted in the reliable emergence of linked perceptual classes. Mechanisms responsible for linked perceptual class formation are discussed along with the relation of these classes to other complex categories. 相似文献
548.
The case of adaptive testing under a multidimensional response model with large numbers of constraints on the content of the test is addressed. The items in the test are selected using a shadow test approach. The 0–1 linear programming model that assembles the shadow tests maximizes posterior expected Kullback-Leibler information in the test. The procedure is illustrated for five different cases of multidimensionality. These cases differ in (a) the numbers of ability dimensions that are intentional or should be considered as nuisance dimensions and (b) whether the test should or should not display a simple structure with respect to the intentional ability dimensions. 相似文献
549.
McIntosh N Braddock BR Branda KJ Eanet K Goldberg S Kieffer SA Primiano L Quercia N Taylor KA Tsipis J Yashar BM Yesley A;National Society of Genetic Counselors DNA Sequence Patenting Position Paper Working Group 《Journal of genetic counseling》2002,11(4):241-243
In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001. 相似文献
550.
Duane D. Culler Judy Silberg Lauren Vanner-Nicely Joy L. Ware Colleen Jackson-Cook Joann Bodurtha 《Journal of genetic counseling》2002,11(5):383-398
Interest in genetic testing for inherited cancer susceptibility is high in the general population. Women at risk for BRCA1 and BRCA2 mutations represent the best-studied population undergoing genetic testing for cancer susceptibility. However, it is unclear whether factors influencing interest in genetic testing in women are directly applicable to men. We designed a study to examine factors associated with men's interest in genetic testing to identify prostate cancer susceptibility. Our sample consisted of 267 men present in waiting rooms of a urology clinic in an urban area. We examined whether the concept of monitoring could be used to predict the interest of men in a genetic test for prostate cancer susceptibility. Our results indicated that monitoring trait was positively associated with interest in genetic testing in these men, but principally for patients rather than nonpatients. Moreover we found that monitoring was associated with over estimation of risk in those men with prostate cancer. Other factors found to influence interest in genetic testing included recommendation by a doctor, family history of prostate cancer, and cost. This study indicated that interest in genetic testing and estimation of risk is influenced by a complex interaction between both psychological factors (monitoring) and nonbehavioral factors (such as patient status, cost, and doctor recommendation). 相似文献